Extended follow‐up of the Finnish cartilage‐hair hypoplasia cohort confirms high incidence of non‐Hodgkin lymphoma and basal cell carcinoma

Taskinen, Mervi; Ranki, Annamari; Pukkala, Eero; Jeskanen, Leila; Kaitila, Ilkka; Mäkitie, Outi

doi:10.1002/ajmg.a.32478

Cited by 88 publications

(63 citation statements)

References 29 publications

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“…Despite including only 10 patients with AT, we observed a significantly increased relative risk of NHL, which is consistent with previous, good-quality evidence from larger AT cohorts. 10,13 Apart from cartilage hair hypoplasia, 12 the risk of cancer relative to the general population has not been previously quantified for the remaining PID classifications or PID entities. Although our findings support variation in NHL risk by the form of primary immunodeficiency, we had insufficient statistical power to reliably estimate NHL incidence for the rarer PID subtypes.…”

Section: Discussionmentioning

confidence: 99%

“…7 PID has been associated with a markedly increased risk of cancer, in particular non-Hodgkin lymphoma (NHL). [8][9][10][11][12][13] However, the PID cancer risk profile is not well characterized because most previous studies have been nonpopulation-based, of small sample size, of limited follow-up, and without a matched comparison group. Other cancers that appear to be associated with specific forms of PID include stomach cancer with common variable immune deficiency (CVID), 8,11 leukemia with ataxia-telangiectasia (AT), 10,13 and nonmelanocytic skin cancer with cartilage-hair hypoplasia.…”

Section: Introductionmentioning

confidence: 99%

“…Other cancers that appear to be associated with specific forms of PID include stomach cancer with common variable immune deficiency (CVID), 8,11 leukemia with ataxia-telangiectasia (AT), 10,13 and nonmelanocytic skin cancer with cartilage-hair hypoplasia. 12 Here, we report the overall and site-specific incidence of cancer relative to the general population for a national cohort of Australians with a diverse range of PID, a majority with predominantly antibody deficiencies.…”

Section: Introductionmentioning

confidence: 99%

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Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency?

Vajdic

Mao

Leeuwen

et al. 2010

Blood

114

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency?

Vajdic

Mao

Leeuwen

et al. 2010

Blood

114

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“…In addition, 10 patients in the cohort developed basal cell carcinoma of the skin. 104 The authors concluded that there was a 7-fold increase overall cancer rate in patients with CHH compared with the normal population, with the risk of non-Hodgkin lymphoma and skin cancer being even higher. A predisposition for cancer has not been reported in TCS, which is not associated with hematologic manifestations.…”

Section: Ribosomal Dysfunction and Cancermentioning

confidence: 99%

Ribosomopathies: human disorders of ribosome dysfunction

Narla

Ebert

2010

Blood

698

726

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Ribosomopathies compose a collection of disorders in which genetic abnormalities cause impaired ribosome biogenesis and function, resulting in specific clinical phenotypes. Congenital mutations in RPS19 and other genes encoding ribosomal proteins cause Diamond-Blackfan anemia, a disorder characterized by hypoplastic, macrocytic anemia. Mutations in other genes required for normal ribosome biogenesis have been implicated in other rare congenital syndromes, SchwachmanDiamond syndrome, dyskeratosis congenita, cartilage hair hypoplasia, and Treacher Collins syndrome. In addition, the 5q؊ syndrome, a subtype of myelodysplastic syndrome, is caused by a somatically acquired deletion of chromosome 5q, which leads to haploinsufficiency of the ribosomal protein RPS14 and an erythroid phenotype highly similar to Diamond-Blackfan anemia. Acquired abnormalities in ribosome function have been implicated more broadly in human malignancies. The p53 pathway provides a surveillance mechanism for protein translation as well as genome integrity and is activated by defects in ribosome biogenesis; this pathway appears to be a critical mediator of many of the clinical features of ribosomopathies. Elucidation of the mechanisms whereby selective abnormalities in ribosome biogenesis cause specific clinical syndromes will hopefully lead to novel therapeutic strategies for these diseases. Identification of ribosomal abnormalities in human diseaseIn 1999, Draptchinskaia et al reported recurrent mutations in a ribosomal protein gene, RPS19, in patients with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome with a striking erythroid defect. 1 Since that initial discovery, mutations in a number of ribosomal proteins have been identified in up to 50% of patients with DBA. Moreover, other congenital syndromes have been linked to defective ribosome biogenesis, including Schwachman-Diamond syndrome (SDS), X-linked dyskeratosis congenita (DKC), cartilage hair hypoplasia (CHH), and Treacher Collins syndrome (TCS). 2 In the 5qϪ syndrome, a subtype of adult myelodysplastic syndrome, acquired haploinsufficiency for RPS14 resulting from an interstitial chromosomal deletion causes a severe refractory anemia. 3 Each of these disorders is associated with specific defects in ribosome biogenesis, which cause distinct clinical phenotypes, most often involving bone marrow failure and/or craniofacial or other skeletal defects. The disorders of ribosome dysfunction have become collectively known as ribosomopathies. Overview of ribosome biogenesisThe eukaryotic ribosome is composed of 40S and 60S subunits, which associate to form the translationally active 80S ribosome. This process requires the coordinated synthesis of 4 ribosomal RNAs (rRNAs), approximately 80 core ribosomal proteins, more than 150 associated proteins, and approximately 70 small nucleolar RNAs (snoRNAs). 4,5 The 40S subunit contains 18S rRNA and the 60S subunit contains 28S, 5.8S, and 5S rRNAs. In eukaryotes, assembly of rRNA and ribosomal proteins, along with assoc...

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“…Nevertheless, primary immune deficiency patients have been associated with a marked increased risk of cancer. Some types of cancers appear to be associated with specific forms of immunodeficiency including stomach cancer with common variable immune deficiency (CVID) (Kinlen et al, 1985;Mellemkjaer et al, 2002), leukemia with ataxiatelangiectasia (Morrell et al, 1986), and nonmelanocytic skin cancer with cartilage-hair hypoplasia (Taskinen et al, 2008). In a recent population-based study, the association of antibody deficiency with an increasing risk of leukemia, non-Hodgkin lymphoma and gastric cancer has been described (Vajdic et al, 2010).…”

Section: Immune Surveillance Of Chronic Lymphocytic Leukemiamentioning

confidence: 99%